Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

Darryl Y. Nishimura, Charles C. Searby, Rivka Carmi, Khalil Elbedour, Lionel Van Maldergem, Anne B. Fulton, Byron L. Lam, Berkley R. Powell, Ruth E. Swiderski, Kevin E. Bugge, Neena B. Haider, Anne E. Kwitek-Black, Lihua Ying, David M. Duhl, Susan W. Gorman, Elise Heon, Alessandro Iannaccone, Dominique Bonneau, Leslie G. Biesecker, Samuel G. JacobsonEdwin M. Stone, Val C. Sheffield

Research output: Contribution to journalArticlepeer-review

211 Scopus citations


Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.

Original languageEnglish
Pages (from-to)865-874
Number of pages10
JournalHuman Molecular Genetics
Issue number8
StatePublished - 1 Apr 2001

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)'. Together they form a unique fingerprint.

Cite this